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부갑상선기능저하증을 동반한 Kearns-Sayre Syndrome 환아에서 Coenzyme Q10 복용으로 고칼슘혈증이 유발된 사례 1례
김덕희,정현희,황현희 대한소아내분비학회 2007 Annals of Pediatirc Endocrinology & Metabolism Vol.12 No.2
Kearns-Sayre Syndrome (KSS) is rare mitochondrial disorder characterized by chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block. It is occasionally combined endocrinologic symptoms such as hypoparathyroidism, short stature, diabetes mellitus and hypothyroidism. We reported the effect of Coenzyme Q10 on total serum calcium concentration in 17 years old girl with KSS and hypoparathyroidism. The patients was treated with alfacalcidol (1α-OHD3), Coenzyme Q10 and oral calcium agent. Total serum calcium concentration had even remained within normal range and hypercalcemia was developed suddenly after treatment of combination of Coenzyme Q10 and alfacalcidol (1α-OHD3). After stop of all medication, her total calcium concentration was decreased to 7.6 mg/dL and remained in normal range with oral calcium (2 g/day) and Coenzyme Q10 (150 mcg/day) daily. The action of Coenzyme Q10 is not clearly defined but, we could explain Coenzyme Q10 activates the capacity of the patient to produce the active form of Vitamin D, 1α-OHD3. 저자들은 Kearns-Sayre Syndrome과 부갑상선기능저하증을 동반한 환아에서 Coenzyme Q10과 alfacalcidol(1α-OHD3)을 함께 복용하여 고칼슘혈증이 초래되었으며, alfacalcidol(1α-OHD3)복용을 중지한 후 혈중 칼슘 농도가 안정화되었음을 확인한 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
Identification of Large Deletion of Mitochondrial DNA in Kearns-Sayre Syndrome (KSS)
Kim, Sang-Ho Korean Society of Life Science 1999 Journal of Life Science Vol.9 No.1
Large-scale deletions of mitochondrial DNA(mtDNA) have been documented in patients with mitochondrial myopathies and seem to be especially frequent in patients with Kearns-Sayre syndrome (KSS). About one third of all patients shows a 4,977 bp deletion, known as the "common deletion", that removes a segment of DNA that includes several genes encoding for respiratory chain subunits. In this disorder, the population of deleted mtDNA molecules coexists with population of normal, wild-type full length mtDNAs, a situation known as heteroplasmy. We have performed polymerase chain reaction (PCR) on paraffin-embedded muscle tissues from two korean KSS patients. The PCR analysis revealed the existence of two amplified fragments, the deleted fragments, the deleted fragment of 123 bp characteristic for common deletion and the wild-type fragment of 152 bp.of 152 bp.
Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block
박은혜,허성호,하명아,김효석,장재혁 고신대학교(의대) 고신대학교 의과대학 학술지 2017 고신대학교 의과대학 학술지 Vol.32 No.1
Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder associated with progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and complete heart block. KSS can lead to a risk of sudden death because of the potential progression of conduction abnormalities such as right or left bundle branch block or complete atrioventricular (AV) block. Here we describe the case of a KSS patient with type I diabetes who experienced syncope in the presence of complete AV block, confirmed by muscular biopsy.
Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review
Moulay O. Moustaine,Zakaria Azemour,Frarchi Mohammed,Othman Benlanda,Hicham Nassik,Mehdi Karkouri Korean Society of Plastic and Reconstructive Surge 2024 Archives of Plastic Surgery Vol.51 No.2
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.
Clinical manifestations and anesthetic management of Kearns-Sayre syndrome -A case report-
이혜미,허수정,지대림 대한마취통증의학회 2011 Anesthesia and pain medicine Vol.6 No.3
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder resulting in multi-system dysfunction. A 14-year-old boy with KSS underwent external levator muscle resection for correction of ptosis. There were no abnormalities on the pre-operative evaluation, except for low-grade heart block and ocular problems. General anesthesia was conducted with a minimum dose of thiopental sodium and sevoflurane under close monitoring, and a laryngeal mask was inserted without muscle relaxation. The surgery was uneventful;however, a careful approach was required during anesthesia because life-threatening complications may occur in patients with KSS. (Anesth Pain Med 2011; 6: 290∼293)
Obstetric anesthesia considerations in Kearns-Sayre syndrome -a case report-
Ali S Faris,Qutaiba A Tawfic,Leo Jeyaraj 대한마취통증의학회 2014 Korean Journal of Anesthesiology Vol.67 No.4
Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities. In addition, patients might have cerebellar ataxia, a high content of protein in the cerebrospinal fluid, proximal myopathy, multiple endocrinopathies, and renal tubular acidosis. We herein report the successful obstetric analgesic and anesthetic management of a 28-year-old parturient patient with KSS who required labor analgesia and proceeded to deliver by cesarean section. We extrapolate that regional analgesia/anesthesia might be beneficial for reducing the metabolic demands associated with the stress and pain of labor in patients with KSS. Efficient postoperative analgesia should be provided to decrease oxygen requirements.
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension
Weitgasser, Laurenz,Wechselberger, Gottfried,Ensat, Florian,Kaplan, Rene,Hladik, Michaela Korean Society of Plastic and Reconstructive Surge 2015 Archives of Plastic Surgery Vol.42 No.2
Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns-Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension
Laurenz Weitgasser,Gottfried Wechselberger,Florian Ensat,Rene Kaplan,Michaela Hladik 대한성형외과학회 2015 Archives of Plastic Surgery Vol.42 No.2
Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns–Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.